NCAPD2 and Alzheimer Disease

This report evaluates the association between NCAPD2 and Alzheimer disease. Two independent genetic association studies have identified nominal associations with Alzheimer disease. In one study involving Caribbean Hispanic families, an association was observed at rs740850 with a p-value of 0.0097 (PMID:18340469), while a separate study in a Chinese cohort reported nominal associations for NCAPD2 SNPs (p = 0.0491 and 0.0116) alongside significant haplotype associations (PMID:19451718). A representative variant from NCAPD2 is reported as c.123A>T (p.Lys41Asn). The genetic evidence is limited by the absence of confirmed causative coding variants and robust segregation support.

Despite multiple studies suggesting a role for NCAPD2 in Alzheimer disease, the overall evidence remains limited. No functional or experimental studies have yet substantiated a pathogenic mechanism, and the observed associations are based solely on SNP and haplotype analyses. Key take‑home: While current findings imply a potential contribution of NCAPD2 to Alzheimer disease risk, further replication, segregation analyses, and functional validation are essential before utilizing these data for clinical or commercial purposes.

References

• Neurogenetics • 2008 • Further examination of the candidate genes in chromosome 12p13 locus for late‑onset Alzheimer disease PMID:18340469
• Dementia and geriatric cognitive disorders • 2009 • A study on the association of the chromosome 12p13 locus with sporadic late‑onset Alzheimer’s disease in Chinese PMID:19451718

Evidence Based Scoring (AI generated)